Tag Archives: Myotonic Dystrophy Foundation

In a instant news email the Myotonic Dystrophy Foundation (MDF) released information that the Ionis Pharmaceutical Drug DMPK-2.5Rx research project has been canceled. The drug DMPK-2.5Rx did not work, and did not get the correct amount of therapeutic drugs into the cells of the patients with myotonic dystrophy. The company may still continue research on a more potent combination but the current trial is halted.

This is hard to hear news for the myotonic community. This is the second drug in development to fail. This new drug is part of a number of new generation of interest drugs in trying to find a drug to treat the disease. There are still a number of drugs in development but the Ionis one was the most advanced. Perhaps the information in this trial will be of help to the other drugs in development. For those in the late stages of the disease the length of time to find a treatment that is FDA approved in unlikely now.

There continues to be some “off label” treatments including erythromycin and some NSAIDS as well as Actinomycin-D but none have had any proven human effect.

More information below.

Ionis Pharmaceuticals Reports on DMPKRx Phase 1/2 Clinical Trial

Ionis Pharmaceuticals recently concluded a Phase 1/2 clinical trial to evaluate IONIS-DMPK-2.5Rx in myotonic dystrophy patients. IONIS-DMPK-2.5Rx was designed to target the toxic DMPK RNA in muscle that is responsible for myotonia or muscle dysfunction in DM1 patients. The clinical trial used dose escalation to assess safety and explore biomarkers for target engagement in muscle biopsies.

Ionis reports that small but encouraging trends in biomarker and splicing changes were observed during the trial, and that this study provided a much better understanding of how future clinical trials and improved clinical endpoints may be used. However, drug levels measured in biopsy tissue from trial participants indicated that the amount of target engagement would not achieve the desired therapeutic benefit to treat this disease.

Without the desired drug levels in muscle, Ionis has decided not to advance IONIS-DMPK-2.5Rx. It will instead pursue the discovery of a more potent drug to target DMPK using new muscle-targeting LICA chemistry made at Ionis.

The company sincerely thanks everyone in the DM community that participated in the study - patients, caregivers and physicians, noting, “we are committed to the DM patient community and we hope to advance a new, more potent drug into development that will benefit people living with DM1.”

Ionis invites DM community members to submit questions regarding the above announcement via this email address. MDF will collect questions through January 12th and then work with Ionis to get answers out to the community as soon as possible.

Isis Pharmaceuticals has announced a strategic partnership with Biogen to begin testing a Drug DMPKRx in Humans this fall. On a webcast that occurred on Sept 9, 2013 Isis CEO announced a strategic partnership in which Isis is receiving upfront payments of $12 Million when the start of toxicology tests begin.

The progress of Isis has been rapid for this drug. Within one year Isis identified the drug this is extremely fast. Toxicology testing program will begin this year 2013. Most likely this will be a pre-clinical toxicology tests to insure that the drug is safe in animal models. Biogen and Isis are working closely to identify bio markers and clinical testing which will begin in 2014. Bio-markers are evidence that the drug actual works to the FDA.

This fast progress is similar to what other companies are finding. As the senior researchers have said that the toxicity of the mutant myotonic dystrophy mRNA is very sensitive to these antisense drugs and other approaches.

This key announcement shows that Isis is making vast strides in this area and that human trials are set for 2014 to begin. To make sure that you are considered for the Trials:

So you’ve been touched by Myotonic Dystrophy. You need a lot of information and Help. The Myotonic Dystrophy Foundation is the premier foundation working to advance the cause and help define treatments. They have a great toolkit to help with a broad understanding of the disease.This toolkit is 124 pages long. Its great!

The Muscular Dystrophy Association of the USA is also working hard to cure the disease. Most Myotonic Dystrophy Patients visit the MDA clinics from Time to time. MDA USA funds a lot of research and they have a new in focus information on Myotonic Dystrophy. Focus on Myotonic Dystrophy MDA USA. There are about 30 pages in this compact review of myotonic Dystrophy. A nice review and graphics of the cause and treatments of DM1.

Myotonic Dystrophy may be the first of the muscular Dystrophy to have a definitive cure established. In the last few years researchers have isolated the issue they believe causes myotonic dystrophy. In the last couple of years therapies that have targeted this problem have reversed the disease in cell and animal models. This has set up a race now for researchers to refine the therapeutic compounds and begin with human trials to see if the animal to human therapeutic transfer works as it is believed to. Thus, this would lead to the first potential cure for a type of muscular dystrophy.

The Myotonic Dystrophy Foundation (MDF) in Menlo Park, CA has taken a lead in assisting researchers with moving forward with this disease elimination process with funding and assistance in establishing a patient registry. The MDF was the early funder of a new Research Collaborative effort lead by Charles Thorton out of the University of Rochester. The foundation has also been instrumental in educating patients and physicians in this complex and slowly progressing disease that results in premature death. A patient conference is planned for early November of 2013 in Houston, TX